Search
for

    Glossary KID Syndrome

    rare genetic disorder causing eye, skin, and hearing issues

    KID Syndrome, or Keratitis-Ichthyosis-Deafness Syndrome, is a rare genetic disorder characterized by three main features: eye problems (keratitis), skin abnormalities (ichthyosis), and hearing loss (deafness). It is typically caused by mutations in the GJB2 gene, which affects the protein connexin 26, crucial for cell communication in the skin and inner ear.

    Sort by

    Research 30 of 147

    1. A novel mutation in the connexin 26 gene (<i>GJB2</i>) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome Clinical and Experimental Dermatology · 2010 · 34 citations
    2. Porokeratotic Eccrine Duct and Hair Follicle Nevus (PEHFN) Associated with Keratitis-Ichthyosis-Deafness (KID) Syndrome Pediatric dermatology · 2010 · 17 citations
    3. Sebaceous carcinoma arising at a chronic candidiasis skin lesion of a patient with keratitis-ichthyosis-deafness (KID) syndrome British Journal of Dermatology · 2011 · 6 citations
    4. KID Syndrome: Report of a Case and Support for Its Reclassification as an Ectodermal Dysplasia Pediatric Dermatology · 2000 · 6 citations
    5. Case Report of Wound Treatment with Hyiodine Gel in an Occasional KID Syndrome Patient Journal of Clinical Medicine · 2025
    6. Severe form of keratitis–ichthyosis–deafness (KID) syndrome associated with septic complications The Journal of Dermatology · 2010 · 29 citations
    7. A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome 2002 · 152 citations
    8. Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient International journal of dermatology and venereology · 2022
    9. Ichthyosiform Erythroderma, a Multifaceted Syndromic Entity Pediatrics in review · 2021
    10. 478 Mutation-specific siRNA Knockdown of GJB2 − Potential gene therapy for Keratitis-ichthyosis-deafness Syndrome Journal of Investigative Dermatology · 2017
    11. Diseases associated with hidranitis suppurativa: part 2 of a series on hidradenitis Dermatology Online Journal · 2013 · 78 citations
    12. Porokeratotic eccrine and hair follicle nevus: a report of two cases and review of the literature 2017 · 5 citations
    13. Trichilemmal cyst of the neck: case report and review of the literature 2021 · 1 citations
    14. Porokeratotic adnexal ostial nevus: a paradigm of cutaneous mosaicism Authorea (Authorea) · 2022
    15. Connexin 26 (<i>GJB2</i>) mutations in keratitis–ichthyosis–deafness syndrome presenting with squamous cell carcinoma The Journal of Dermatology · 2011 · 11 citations
    16. Clinical Snippets Experimental Dermatology · 2015
    17. Hair-thread tourniquet syndrome of labia: A case report Gynecology & Obstetrics · 2018
    18. An Atypical Female Case of Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome with Severe Lower Limb Contractures Requiring Orthopedic Surgery Clinical Cosmetic and Investigational Dermatology · 2025
    19. Evidence-Based and Potential Benefits of Metformin in the Polycystic Ovary Syndrome: A Comprehensive Review Endocrine Reviews · 2008 · 343 citations
    20. Síndrome do nevo de Becker Anais Brasileiros De Dermatologia · 2010 · 21 citations
    21. Beyond Hormones: A Systematic Review of the Risk of Cardiovascular Diseases in Polycystic Ovary Syndrome Cureus · 2024 · 10 citations
    22. Acquired constriction ring syndrome as a cause of inconsolable cry in a child: a case report Cases Journal · 2008 · 7 citations
    23. Oral Presentations Pediatric Dermatology · 2017
    24. Management of congenital ichthyoses: European guidelines of care, part two British Journal of Dermatology · 2018 · 66 citations
    25. A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome Orphanet Journal of Rare Diseases · 2017 · 11 citations
    26. Congenital atrichia and hypotrichosis World Journal of Pediatrics · 2011 · 11 citations
    27. A Case of IFAP Syndrome with Severe Atopic Dermatitis Case reports in medicine · 2015 · 5 citations
    28. Ichthyosis follicularis alopecia and photophobia syndrome:Transient improvement with oral isotretinoin Indian journal of paediatric dermatology · 2015 · 3 citations
    29. Dermoscopy — 4th Conference of the Section of Dermoscopy and Other Skin Imaging Techniques (DiTOS) of the Polish Dermatological Society — Abstracts Forum Dermatologicum · 2026
    30. When Rare Meets Risky: Clouston Syndrome with Cutaneous Squamous Cell Carcinoma Indian Dermatology Online Journal · 2025